Cargando…

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing

Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 patients with bilateral hearing loss and 520 healthy volunteers with normal hearing to comprehensively identify the molec...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Jie, Cao, Zongfu, Su, Yu, Wang, Yang, Cai, Ruikun, Chen, Jiyue, Gao, Bo, Han, Mingyu, Li, Xiaohong, Zhang, DeJun, Gao, Xue, Huang, Shasha, Huang, Quanfei, Yuan, Yongyi, Ma, Xu, Dai, Pu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Nature Singapore 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9592555/ https://www.ncbi.nlm.nih.gov/pubmed/35982127 http://dx.doi.org/10.1038/s10038-022-01066-5

Ejemplares similares

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss
por: Zhang, Dejun, et al.
Publicado: (2022)

Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
por: Fu, Ying, et al.
Publicado: (2022)

Preimplantation genetic testing for hereditary hearing loss in Chinese population
por: Bi, Qingling, et al.
Publicado: (2023)

Correction to: Preimplantation genetic testing for hereditary hearing loss in Chinese population
por: Bi, Qingling, et al.
Publicado: (2023)

Gene4HL: An Integrated Genetic Database for Hearing Loss
por: Huang, Shasha, et al.
Publicado: (2021)

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation
por: Zhu, Yuhua, et al.
Publicado: (2014)

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
por: Wang, Qiuquan, et al.
Publicado: (2022)

Variant analysis of 92 Chinese Han families with hearing loss
por: Jin, Xiaohua, et al.
Publicado: (2022)

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals
por: Huang, Shasha, et al.
Publicado: (2015)

Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family
por: Huang, Shasha, et al.
Publicado: (2020)

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
por: Yuan, Yongyi, et al.
Publicado: (2010)

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2
por: Huang, Bangqing, et al.
Publicado: (2017)

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
por: Huang, Aiping, et al.
Publicado: (2015)

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China
por: Yuan, Yongyi, et al.
Publicado: (2012)

Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
por: Guo, Chang, et al.
Publicado: (2020)

Common Molecular Etiologies Are Rare in Nonsyndromic Tibetan Chinese Patients with Hearing Impairment
por: Yuan, Yongyi, et al.
Publicado: (2012)

Editorial: Hearing Loss: Mechanisms and Prevention
por: Chai, Renjie, et al.
Publicado: (2022)

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss
por: Wang, Wei-Qian, et al.
Publicado: (2022)

Diagnosing and Preventing Hearing Loss in the Genomic Age
por: McDermott, John H., et al.
Publicado: (2019)

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
por: Gao, Xue, et al.
Publicado: (2017)

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China
por: Yuan, Yongyi, et al.
Publicado: (2009)

Guidelines for Diagnosing and Quantifying Noise-Induced Hearing Loss
por: Moore, Brian C. J., et al.
Publicado: (2022)

Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province
por: Luo, Haiyan, et al.
Publicado: (2022)

Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China
por: Xin, Feng, et al.
Publicado: (2013)

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family
por: Gao, Xue, et al.
Publicado: (2018)

Gout with Hearing Loss
por: Huang, Wenhan, et al.
Publicado: (2021)

A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss
por: Su, Yu, et al.
Publicado: (2014)

Construction and Effect of the Three-Level and Two-Stage Screening Mode for Age-Related Hearing Loss: A Study Based on the Community in Shanghai, China
por: Ge, Jianli, et al.
Publicado: (2023)

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2015)

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2013)

Sudden Sensorineural Hearing Loss in the Only Hearing Ear: Large Vestibular Aqueduct Syndrome
por: Bal, Kemal Koray, et al.
Publicado: (2016)

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing
por: Jiang, Yi, et al.
Publicado: (2021)

Hearing Loss in Neurological Disorders
por: Li, Siyu, et al.
Publicado: (2021)

Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China()
por: Lu, Yajie, et al.
Publicado: (2011)

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct
por: Zhao, Jiandong, et al.
Publicado: (2012)

Experimental Study of Local Inner Ear Gene Therapy for Controlling Autoimmune Sensorineural Hearing Loss
por: Tan, Chang-qiang, et al.
Publicado: (2014)

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
por: Gao, Xue, et al.
Publicado: (2013)

Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss
por: Gao, Xue, et al.
Publicado: (2018)

Sensitivity and specificity of hearing tests for screening hearing loss in older adults
por: Ting, Hsin-Chen, et al.
Publicado: (2023)

Loss of ARHGEF6 Causes Hair Cell Stereocilia Deficits and Hearing Loss in Mice
por: Zhu, Chengwen, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_v448gppuqa3n8n08f8h28mvidg